Evidence mapPaperPMID 42449999Full record

ReviewInternational journal of molecular sciences2026

A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.

Rebeca Estevez Barcia, Cristóbal Colón, Álvaro Hermida-Ameijeiras, Laura López-Valverde, Daniel Rodrigues, Cristina Domínguez-González, Jordi Díaz-Manera, Maria L Couce, José Victor Alvarez

Abstract readReview
In one paragraph

Review in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Rebeca Estevez BarciaIDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.
Cristóbal ColónIDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.ORCID 0000-0002-9711-2812
Álvaro Hermida-AmeijeirasDepartment of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.ORCID 0000-0003-3757-262X
Laura López-ValverdeIDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.ORCID 0000-0003-2504-6008
Daniel RodriguesIDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.
Cristina Domínguez-GonzálezNeuromuscular Unit, Department of Neurology, Research Institute Imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Hospital Universitario 12 de Octubre, Instituto de Salud Carlos III, 28041 Madrid, Spain.ORCID 0000-0001-5151-988X
Jordi Díaz-ManeraThe John Walton Muscular Dystrophy Research Center, Newcastle University, Newcastle Upon Tyne NHS Trust, Newcastle upon Tyne NE1 3BZ, UK.ORCID 0000-0003-2941-7988
Maria L CouceIDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.ORCID 0000-0003-4861-9905
José Victor AlvarezIDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.ORCID 0000-0003-3735-1341

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pompe disease (PD) is a rare, autosomal recessive neuromuscular disorder caused by mutations in the gene encoding acid alpha-glucosidase (

Indexed as

alpha-GlucosidasesEnzyme Replacement TherapyGlycogen Storage Disease Type IIHumansMutationalpha-Glucosidasesacid alpha-glucosidase deficiencyenzyme replacement therapyinfantile-onset Pompe diseasenewborn screeningurinary glucose tetrasaccharide

Identifiers

PMID42449999
PMCPMC13360709

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.